ATM serine/threonine kinaseATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis. Several of these targets, including p53, CHK2, BRCA1, NBS1 and H2AX are tumor suppressors. In 1995, the gene was discovered by Yosef Shiloh who named its product ATM since he found that its mutations are responsible for the disorder ataxia–telangiectasia.
Genetic disorderA genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance).
Mantle cell lymphomaMantle cell lymphoma (MCL) is a type of non-Hodgkin's lymphoma (NHL), comprising about 6% of NHL cases. It is named for the mantle zone of the lymph nodes. MCL is a subtype of B-cell lymphoma, due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. MCL cells generally over-express cyclin D1 due to the t(11:14) translocation, a chromosomal translocation in the DNA. People with mantle cell lymphoma typically present with symptoms later in life, with a median age of onset between 60 and 70 years of age.
ProerythroblastA proerythroblast (or rubriblast, or pronormoblast) is the earliest of four stages in development of the normoblast. In histology, it is very difficult to distinguish it from the other "-blast" cells (lymphoblast, myeloblast, monoblast, and megakaryoblast). The cytoplasm is blue in an H&E stain, indicating that it is basophilic. Proerythroblasts arise from the CFU-e (colony-forming unit erythroid) cells, and give rise to basophilic erythroblasts.
